Canonical Allele Identifier: CA16040872

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193774T>C , CM000664.2:g.26193774T>C	GRCh38
NC_000002.11:g.26416643T>C , CM000664.1:g.26416643T>C	GRCh37
NC_000002.10:g.26270147T>C	NCBI36
NG_007121.1:g.55847A>G
NG_007121.2:g.55848A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000182.5:c.1690-2A>G (HADHA) MANE Select	NP_000173.2:n.1690-2A>G
ENST00000380649.8:c.1690-2A>G (HADHA) MANE Select	ENSP00000370023.3:n.1690-2A>G
NM_000182.4:c.1690-2A>G (HADHA)	NP_000173.2:n.1690-2A>G
ENST00000380649.7:c.1690-2A>G (HADHA)	ENSP00000370023.3:n.1690-2A>G
ENST00000492433.1:c.148-2A>G (HADHA)	ENSP00000438039.1:n.148-2A>G
ENST00000492433.2:c.1690-2A>G (HADHA)	ENSP00000438039.2:n.1690-2A>G
ENST00000643057.1:c.*1581-2A>G (HADHA)	ENSP00000493761.1:n.*1581-2A>G
ENST00000643063.1:c.*736-2A>G (HADHA)	ENSP00000495353.1:n.*736-2A>G
ENST00000643233.1:c.*1581-2A>G (HADHA)	ENSP00000493880.1:n.*1581-2A>G
ENST00000644428.1:c.*314-2A>G (HADHA)	ENSP00000495560.1:n.*314-2A>G
ENST00000645274.1:c.1585-2A>G (HADHA)	ENSP00000493996.1:n.1585-2A>G
ENST00000646031.1:c.1049-2A>G (HADHA)
ENST00000646483.1:c.1556-2A>G (HADHA)	ENSP00000496185.1:n.1556-2A>G
XM_011532567.1:c.1683+6459T>C (GAREM2)	XP_011530869.1:n.1683+6459T>C
XM_011532567.3:c.1683+6459T>C (GAREM2)	XP_011530869.1:n.1683+6459T>C